ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu)

gnomAD frequency: 0.00004  dbSNP: rs760518441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062042 SCV001226812 uncertain significance Hyperkalemic periodic paralysis 2022-11-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 286 of the SCN4A protein (p.Pro286Leu). This variant is present in population databases (rs760518441, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. ClinVar contains an entry for this variant (Variation ID: 856556). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SCN4A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005005023 SCV002779421 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-05-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142004 SCV003821308 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing

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